Incidental Mutation 'R7540:Adamts8'
| ID |
583844 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts8
|
| Ensembl Gene |
ENSMUSG00000031994 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 8 |
| Synonyms |
METH2, METH-2 |
| MMRRC Submission |
045612-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R7540 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
30853858-30875134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30870360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 650
(E650G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069644
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068135]
[ENSMUST00000163037]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068135
AA Change: E650G
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000069644
Gene: ENSMUSG00000031994
AA Change: E650G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
35 |
152 |
6.4e-23 |
PFAM |
|
Pfam:Reprolysin_5
|
232 |
418 |
1.3e-15 |
PFAM |
|
Pfam:Reprolysin_4
|
233 |
435 |
3.4e-8 |
PFAM |
|
Pfam:Reprolysin
|
234 |
444 |
3.8e-21 |
PFAM |
|
Pfam:Reprolysin_2
|
252 |
434 |
1.3e-10 |
PFAM |
|
Pfam:Reprolysin_3
|
255 |
389 |
7.4e-14 |
PFAM |
|
TSP1
|
545 |
597 |
7.04e-14 |
SMART |
|
Pfam:ADAM_spacer1
|
706 |
825 |
3.2e-35 |
PFAM |
|
TSP1
|
851 |
904 |
5.35e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163037
|
| SMART Domains |
Protein: ENSMUSP00000124848
Gene: ENSMUSG00000031994
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2V4B|B
|
22 |
128 |
2e-38 |
PDB |
|
SCOP:d1kufa_
|
27 |
128 |
2e-22 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (48/49) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. This gene is expressed in mouse lung, heart and macrophage-rich areas of atherosclerotic plaques. The encoded preproprotein undergoes proteolytic processing to generate an active, zinc-dependent aggrecanase enzyme. This gene is located adjacent to a related ADAMTS gene on chromosome 9. [provided by RefSeq, May 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930516K23Rik |
T |
C |
7: 103,708,470 (GRCm39) |
E113G |
probably damaging |
Het |
| Adgrg7 |
G |
A |
16: 56,570,792 (GRCm39) |
T412M |
probably damaging |
Het |
| Ank2 |
C |
T |
3: 126,781,808 (GRCm39) |
V7I |
possibly damaging |
Het |
| Bpifb1 |
G |
A |
2: 154,055,031 (GRCm39) |
V308M |
probably damaging |
Het |
| C3 |
A |
G |
17: 57,513,220 (GRCm39) |
S1476P |
probably benign |
Het |
| Dgkb |
A |
T |
12: 38,031,789 (GRCm39) |
|
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,359,655 (GRCm39) |
|
probably null |
Het |
| Foxb1 |
G |
A |
9: 69,667,141 (GRCm39) |
Q130* |
probably null |
Het |
| Gemin5 |
C |
T |
11: 58,021,228 (GRCm39) |
|
probably null |
Het |
| Ghr |
T |
A |
15: 3,349,396 (GRCm39) |
D594V |
possibly damaging |
Het |
| Gm10272 |
A |
C |
10: 77,542,460 (GRCm39) |
M1L |
unknown |
Het |
| Gpr161 |
G |
A |
1: 165,146,404 (GRCm39) |
V447M |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,268,751 (GRCm39) |
S2157T |
possibly damaging |
Het |
| Irs1 |
A |
G |
1: 82,265,723 (GRCm39) |
V831A |
not run |
Het |
| Itga8 |
T |
A |
2: 12,115,848 (GRCm39) |
I1014L |
possibly damaging |
Het |
| Iws1 |
T |
A |
18: 32,213,536 (GRCm39) |
S321R |
possibly damaging |
Het |
| Kctd19 |
G |
T |
8: 106,113,567 (GRCm39) |
P702Q |
probably benign |
Het |
| Man2c1 |
G |
A |
9: 57,047,559 (GRCm39) |
D739N |
probably damaging |
Het |
| Mboat4 |
T |
A |
8: 34,591,178 (GRCm39) |
L205Q |
probably damaging |
Het |
| Meis3 |
C |
A |
7: 15,911,418 (GRCm39) |
Y38* |
probably null |
Het |
| Mroh7 |
G |
T |
4: 106,577,595 (GRCm39) |
T361K |
possibly damaging |
Het |
| Msantd5f2 |
C |
T |
4: 73,586,648 (GRCm39) |
|
probably benign |
Het |
| Myl6b |
T |
A |
10: 128,332,149 (GRCm39) |
K106* |
probably null |
Het |
| Naaa |
T |
A |
5: 92,411,583 (GRCm39) |
T241S |
probably benign |
Het |
| Neurog3 |
T |
G |
10: 61,969,756 (GRCm39) |
I172S |
probably benign |
Het |
| Nub1 |
T |
G |
5: 24,906,527 (GRCm39) |
I351R |
probably damaging |
Het |
| Or2t47 |
C |
A |
11: 58,442,457 (GRCm39) |
V203L |
possibly damaging |
Het |
| Or3a1c |
A |
T |
11: 74,046,414 (GRCm39) |
R145W |
probably benign |
Het |
| Or6c207 |
A |
T |
10: 129,105,003 (GRCm39) |
F63Y |
probably benign |
Het |
| Osbp2 |
T |
C |
11: 3,667,944 (GRCm39) |
K18E |
probably damaging |
Het |
| Pcdh8 |
A |
T |
14: 80,008,543 (GRCm39) |
W7R |
probably benign |
Het |
| Pcsk7 |
G |
T |
9: 45,838,971 (GRCm39) |
|
probably null |
Het |
| Plin4 |
G |
A |
17: 56,411,883 (GRCm39) |
T716I |
probably damaging |
Het |
| Prkcb |
G |
A |
7: 122,167,357 (GRCm39) |
V356I |
probably damaging |
Het |
| Pus7 |
G |
A |
5: 23,965,244 (GRCm39) |
T304I |
probably damaging |
Het |
| Rmnd1 |
A |
G |
10: 4,353,989 (GRCm39) |
V402A |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,181,346 (GRCm39) |
E329G |
probably damaging |
Het |
| Sytl3 |
T |
C |
17: 6,949,346 (GRCm39) |
|
probably benign |
Het |
| Tg |
A |
G |
15: 66,561,776 (GRCm39) |
I1087V |
probably benign |
Het |
| Tmco1 |
A |
G |
1: 167,153,572 (GRCm39) |
T162A |
|
Het |
| Tti1 |
G |
A |
2: 157,849,916 (GRCm39) |
T441I |
probably benign |
Het |
| Tubgcp6 |
G |
T |
15: 88,986,526 (GRCm39) |
Q1366K |
possibly damaging |
Het |
| Ush1g |
T |
C |
11: 115,209,399 (GRCm39) |
K265R |
probably benign |
Het |
| Zdhhc8 |
A |
G |
16: 18,045,674 (GRCm39) |
V209A |
probably damaging |
Het |
| Zfp160 |
T |
A |
17: 21,245,922 (GRCm39) |
Y157* |
probably null |
Het |
| Zfp423 |
A |
T |
8: 88,414,695 (GRCm39) |
C1208S |
possibly damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,315,450 (GRCm39) |
V1342E |
probably damaging |
Het |
| Zmym1 |
A |
T |
4: 126,942,550 (GRCm39) |
C613S |
probably benign |
Het |
|
| Other mutations in Adamts8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Adamts8
|
APN |
9 |
30,864,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02049:Adamts8
|
APN |
9 |
30,862,650 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02304:Adamts8
|
APN |
9 |
30,867,952 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02385:Adamts8
|
APN |
9 |
30,873,026 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02536:Adamts8
|
APN |
9 |
30,873,368 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03347:Adamts8
|
APN |
9 |
30,870,534 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0633:Adamts8
|
UTSW |
9 |
30,854,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1066:Adamts8
|
UTSW |
9 |
30,867,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Adamts8
|
UTSW |
9 |
30,862,673 (GRCm39) |
missense |
probably benign |
|
|
R1464:Adamts8
|
UTSW |
9 |
30,862,673 (GRCm39) |
missense |
probably benign |
|
|
R1560:Adamts8
|
UTSW |
9 |
30,867,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1592:Adamts8
|
UTSW |
9 |
30,854,472 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1753:Adamts8
|
UTSW |
9 |
30,865,910 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1932:Adamts8
|
UTSW |
9 |
30,867,808 (GRCm39) |
missense |
probably benign |
|
|
R2087:Adamts8
|
UTSW |
9 |
30,873,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2118:Adamts8
|
UTSW |
9 |
30,854,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3789:Adamts8
|
UTSW |
9 |
30,870,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4165:Adamts8
|
UTSW |
9 |
30,862,684 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4166:Adamts8
|
UTSW |
9 |
30,862,684 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4193:Adamts8
|
UTSW |
9 |
30,870,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4425:Adamts8
|
UTSW |
9 |
30,867,952 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5155:Adamts8
|
UTSW |
9 |
30,865,844 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5433:Adamts8
|
UTSW |
9 |
30,873,012 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5544:Adamts8
|
UTSW |
9 |
30,863,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5590:Adamts8
|
UTSW |
9 |
30,862,632 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5640:Adamts8
|
UTSW |
9 |
30,867,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5800:Adamts8
|
UTSW |
9 |
30,865,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5909:Adamts8
|
UTSW |
9 |
30,873,224 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6821:Adamts8
|
UTSW |
9 |
30,867,922 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6967:Adamts8
|
UTSW |
9 |
30,865,787 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7336:Adamts8
|
UTSW |
9 |
30,873,363 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7538:Adamts8
|
UTSW |
9 |
30,864,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7942:Adamts8
|
UTSW |
9 |
30,870,209 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7942:Adamts8
|
UTSW |
9 |
30,864,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8085:Adamts8
|
UTSW |
9 |
30,854,611 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8795:Adamts8
|
UTSW |
9 |
30,854,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8877:Adamts8
|
UTSW |
9 |
30,862,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8900:Adamts8
|
UTSW |
9 |
30,865,930 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9141:Adamts8
|
UTSW |
9 |
30,864,721 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9224:Adamts8
|
UTSW |
9 |
30,854,188 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9326:Adamts8
|
UTSW |
9 |
30,854,886 (GRCm39) |
missense |
probably benign |
|
|
R9331:Adamts8
|
UTSW |
9 |
30,862,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9426:Adamts8
|
UTSW |
9 |
30,864,721 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9796:Adamts8
|
UTSW |
9 |
30,862,569 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTTACTCTGAGCCGTCCC -3'
(R):5'- ATGGTCACAGCCAGCCTTAAC -3'
Sequencing Primer
(F):5'- GTCCCTTACTCTTCTCAGGAAAAAG -3'
(R):5'- TCGAATCCCTGTCACAGT -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation